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Genetic Disorders: Implications for Allied Health Professionals: Two
Case Studies
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Michaele Smith, PT, MEd
Jerome V. Danoff, PT, PhD
Mina Jain, PT, MS, PCS
Toby M. Long, PT, PhD
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CDR, United
States Public Health Service, Education Coordinator, National Institutes
of Health, Department of Rehabilitation Medicine, Physical Therapy
Section
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Research
Consultant, National Institutes of Health, Department of Rehabilitation
Medicine, Associate Professor, Department of Exercise Science, George
Washington University Medical Center
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Pediatric
Coordinator, National Institutes of Health, Department of Rehabilitation
Medicine, Physical Therapy Section
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Director,
Division of Physical Therapy, Georgetown University Child Development
Center, Associate Professor, Department of Pediatrics, Georgetown
University Medical Center
United States
Citation:
Smith, M., Danoff, J., Jain, M., Long, T. Genetic disorders:
Implications for allied health professionals: Two case studies. The
Internet Journal of Allied Health Sciences and Practice. Oct 2007,
Volume 5 Number 4.
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Abstract
With advances in study of the human genome, increasingly accurate
genetic testing has become available. Genetic-based birth defects
may result in progressive dysfunction. Consequently, because of the
negative associations, many people do not want to consider
prognostication testing or accept the most appropriate treatments.
The allied health practitioner may see this as counter to the goal
of optimal health care. However, consideration must be given to the
patient’s comfort with advanced knowledge. In this paper we discuss
ethical, legal, and social implications of genetic testing and how
these relate to patients seen in an allied health environment.
First, background on genetic disorders, their causes, and how they
are characterized is presented. Then two case studies are described.
One is a 50-year female with Huntington’s disease (chorea), an
inherited autosomal dominant condition leading to central nervous
system deterioration. The second is a 5-year boy with Stickler
syndrome, a hereditary autosomal dominant connective tissue disorder
affecting Type II collagen. Symptoms, therapeutic approaches, and
long term prognoses are discussed. Working with patients having
genetic disorders presents unique challenges for allied health
professionals because of the social and political implications of
these maladies. Suggestions are provided on how allied health
professionals may respond to these issues.
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Keywords
and terms: Human Genome Project, Huntington’s Disease,
Stickler Syndrome, ELSI, Allied Health |
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